ClinVar Miner

Submissions for variant NM_005751.4(AKAP9):c.7166A>G (p.Asp2389Gly) (rs140782750)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463629 SCV000563341 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618311 SCV000735944 likely benign Cardiovascular phenotype 2019-10-03 criteria provided, single submitter clinical testing Insufficient evidence
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000823 SCV001157888 uncertain significance Long QT syndrome 11 2018-09-26 criteria provided, single submitter clinical testing The AKAP9 c.7166A>G; p.Asp2389Gly variant (rs140782750), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 417034). This variant is found in the African population with an allele frequency of 0.23% (55/23,974 alleles) in the Genome Aggregation Database. The aspartic acid at codon 2389 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Asp2389Gly variant is uncertain at this time.

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